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c.1407+5G>A

c.1407+5G>A. A. gDNA. exon 13. cDNA. c.1899-4A>G. B. C. c.2101A>G. c.242A>G. c.2311_2312delCA. H. sapiens RQI D FVL M. musculus RQI D FVL X. laevis RRI D FIL D. rerio RRI D FVL D. melanogaster RKV D MVL A. gambiae RKI D MVL. E. D. c.2141C>G.

jenna-holloway
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c.1407+5G>A

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  1. c.1407+5G>A A gDNA exon 13 cDNA c.1899-4A>G B C c.2101A>G c.242A>G c.2311_2312delCA H. sapiens RQIDFVL M. musculus RQIDFVL X. laevis RRIDFIL D. rerio RRIDFVL D. melanogaster RKVDMVL A. gambiae RKIDMVL E D c.2141C>G H. sapiens ALINNIV M. musculus ALMNNIM X. laevis ALLNNIL D. rerio ALMNNIL D. melanogaster ALLNNVA A. gambiae ALLNNIA F G c.1627dupA c.1502delT H. sapiens KLTTQYR M. musculus KLTTQYR X. laevis KLTTQFK D. rerio KFTTQFR D. melanogaster KMVTQAR A. gambiae KMVTQSR H I J K Figure e-1. New recessive ANO5 mutations identified in this study. (A) Heterozygous mutation c.1407+5G>A. In cDNA sequence of the same patient heterozygous skipping of exon 14 is shown. (B) Heterozygous mutation c.242A>G. (C) Protein alignment of residue Asp81. (D) Heterozygous mutation c.2101A>G. (E) Protein alignment of residue Asn701. (F) Heterozygous mutation c.2141C>G. (G) Protein alignment of residue Thr714. (H) Heterozygous mutation c.1502delT. (I) Heterozygous mutation c.1627dupA. (J) Heterozygous mutation c.1899-4A>G. (K) Heterozygous mutation c.2311_2312delCA. The sequence is shown in reverse direction. Arrows indicate the sites of the mutations.

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